title: Tomaculous neuropathy in Charcot-Marie-Tooth disease with myelin protein zero gene mutation.
abstract: Mutation of the myelin protein zero (MPZ) gene is associated with a small number of Charcot-Marie-Tooth (CMT) patients. We present a patient with Lys 130 Arg substitution in the extracellular domain who showed tomacula formation in biopsied sural nerve. CMT patients with mutations Ly 96 Glu, Lys 130 Arg and Ile 135 Leu showed tomaculous neuropathy. Present and previously reported investigations suggest that the pathological phenotypes of peripheral nerve are probably related to the mutations of the MPZ gene.
authors.affiliation: School of Health Sciences, Sapporo Medical University, Japan. tati@shs.sapmed.ac.jp
authors.forename: N
authors.initials: N
authors.lastname: Tachi
authors.forename: N
authors.initials: N
authors.lastname: Kozuka
authors.forename: K
authors.initials: K
authors.lastname: Ohya
authors.forename: S
authors.initials: S
authors.lastname: Chiba
authors.forename: K
authors.initials: K
authors.lastname: Sasaki
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics / Q000502:physiology*; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology*; D002648:Child; D004247:DNA / Q000032:analysis / Q000302:isolation & purification; D005260:Female; D006801:Humans; D009185:Myelin Proteins / Q000172:deficiency / Q000235:genetics*; D010525:Peripheral Nerves / Q000473:pathology*; D013497:Sural Nerve / Q000473:pathology
chemical_list: D009185:Myelin Proteins; D004247:DNA